Mitochondria Phenome Knowledgebase

Phenotypic Feature Developmental-delay finds 111 Gene-Feature associations that are associated with 111 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Developmental-delay psychomotor delay neurologic 6015890
ABAT 137150 Developmental-delay psychomotor retardation neurologic 6148708 9746906 10407778
ABAT 209850 Developmental-delay language delay; neurodevelopmental disorder neurologic 11481586 15689451 15830322
ABCB7 301310 Developmental-delay psychomotor regression neurologic 11050011
ABCD1 300100 Developmental-delay speech delay; language delay; neuropsychological delay neurologic 10426149 16672758
ACADL 201460 Developmental-delay motor retardation neurologic 8739959
ACADM 201450 Developmental-delay cerebral palsy neurologic 7929823 11263545
ACADS 201470 Developmental-delay psychomotor retardation; speech development delayed; failure to aquire motor skills neurologic 2808706 3335634 7776094 11134486 11524729 14595061 15534767
ACADSB 610006 Developmental-delay psychomotor retardation; cerebral palsy; global delay neurologic 10832746 11013134 15615815 16317551
ACADVL 201475 Developmental-delay neurologic 7479827
ACAT1 203750 Developmental-delay psychomotor retardation; ponderal delay; statural delay; staturo ponderal delay neurologic 8930414 10604145
ACSL4 300387 Developmental-delay language impairment; autonomy level impaired; speech delay neurologic 11889465
AGXT 259900 Developmental-delay neurologic 14657686
ALDH18A1 138250 Developmental-delay neurologic 15517380
ALDH4A1 239510 Developmental-delay growth delay; mild neurologic 2383933 4825691
ALDH5A1 271980 Developmental-delay mild; severe; psychomotor retardation; coordination; language delay; speech disturbance; speech delay; motor delay; coordination impaired neurologic 8803774 9093300 9266358 9683595 10234622 11901270 12743223 14512218 15037717 15059623 15287248
ALDH6A1 603178 Developmental-delay psychomotor retardation; psychomotor delay neurologic 9787093
AMACR 604489 Developmental-delay neurologic 10655068
AMT 605899 Developmental-delay psychomotor retardation neurologic 8005589 12948742 16450403
ATPAF2 604273 Developmental-delay psychomotor retardation neurologic 14757859
AUH 250950 Developmental-delay psychomotor retardation; speech retardation neurologic 3082934 10896289 12434311
BCKDHA 248600 Developmental-delay psychomotor retardation; inability to sit; inability to stand; inability to crawl; speech delay; language delay neurologic 7883996 12042535 16601891 16786533
BCKDHB 248600 Developmental-delay psychomotor retardation; intellectual development impaired neurologic 11448970 11509994 16786533
BCS1L 124000 Developmental-delay psychomotor retardation; multisystemic involvement neurologic 11528392 12910490
BCS1L 603358 Developmental-delay psychomotor retardation; severe neurologic 7577396
CLN3 204200 Developmental-delay psychomotor retardation; regression; psychomotor detorioration neurologic 7553855 9311735 9392580 15032383
COX10 220110 Developmental-delay psychomotor retardation; developmental arrest neurologic 12928484 15455402
COX15 220110 Developmental-delay psychomotor retardation neurologic 12474143 15235026 15863660
CPOX 121300 Developmental-delay psychomotor retardation neurologic 15896662
CPS1 237300 Developmental-delay psychomotor retardation neurologic 6465866 8486760 9686343 11301219
CPT1A 255120 Developmental-delay motor retardation neurologic 9691089
CPT2 255110 Developmental-delay gross motor delay neurologic 8201482
CYB5R3 250800 Developmental-delay psychomotor retardation; neuropsychologic retardation; head lag; neurodevelopmental delay; methemoglobinemia type II related neurologic 7668255 8119939 8874222 9886302 10874300 11295830 15744830 16304354
CYP27A1 213700 Developmental-delay psychomotor retardation; motor abilities delayed neurologic 14572142 16157755
CYP27B1 264700 Developmental-delay poor motor development; inability to sit crawl or stand neurologic 9415400 9837822 10566658
DBT 248600 Developmental-delay psychomotor retardation; developmental retardation; psychomotor developmental delay neurologic 9239422 9621512 14508502 14741190 14742428 16786533
DGUOK 251880 Developmental-delay psychomotor retardation; generalized; motor development abnormal neurologic 12205643 15887277 15964659 16263314
DLAT 245348 Developmental-delay psychomotor retardation; coordination neurologic 2112155 16049940
DLD 248600 Developmental-delay psychomotor retardation; coordination abnormal; motor retardation neurologic 3769994 6897145 8506365 8968745 9540846 9934985 10448086 11687750 12925875
DLST 203740 Developmental-delay psychomotor deterioration neurologic 7075624 8295396
DMPK 160900 Developmental-delay motor delay; mental delay; motor skills delayed neurologic 9521960 11407162 14521021 15770660
DNAJC19 608977 Developmental-delay motor delay neurologic 16055927
ETFA 231680 Developmental-delay psychomotor delay neurologic 16510302
ETFDH 231680 Developmental-delay motor development neurologic 15669683
ETHE1 602473 Developmental-delay regression; psychomotor retardation neurologic 9475600 12382164 14732903
FH 606812 Developmental-delay psychomotor retardation neurologic 1432428 8200987 9635293 15221078 16156009
GATM 602360 Developmental-delay walking; speaking; fine motor skills; eye hand coordination; psychomotor delay; neurologic regression neurologic 10762163 11555793 12324495 12468279
GCDH 231670 Developmental-delay neurodevelopment delayed; psychomotor retardation; psychomotor delay neurologic 7564239 7795610 10407775 10960496 11174631 11825066 15985591 16377226
GCK 606176 Developmental-delay learning difficulties; behavior difficulties neurologic 11372010
GCSH 605899 Developmental-delay psychomotor retardation neurologic 1671321
GDAP1 214400 Developmental-delay motor development neurologic 12707075
GDAP1 607706 Developmental-delay retarded milestones neurologic 15805163
GFM1 609060 Developmental-delay neurologic 15537906
GK 307030 Developmental-delay psychomotor retardation neurologic 8651297 11032329 11479736
GLDC 605899 Developmental-delay psychomotor retardation neurologic 1634607 10798358 15824356 16450403
GLUD1 606762 Developmental-delay mental development status delayed; psychomotor retardation neurologic 8769351 9108870 10871207 11297618 11518822
HADHA 609015 Developmental-delay psychomotor retardation; motor milestones delayed neurologic 9739053 15902556
HADHA 609016 Developmental-delay psychomotor retardation neurologic 9003853 9403664 14605499
HADHB 609015 Developmental-delay milestones delayed; infection triggered neurologic 12754706 15902556
HD 143100 Developmental-delay psychomotor regression; neurodevelopmental regression; abrupt neurologic 15042332 15338298 15526960
HLCS 253270 Developmental-delay psychomotor delay neurologic 8817339 10190325 12124727 12633764 12855220 16134170
HMGCL 246450 Developmental-delay psychomotor deficiency neurologic 9439591
HSD17B10 300438 Developmental-delay psychomotor; loss of milestones; motor skill loss; progressive; detorioration; coordination abnormal neurologic 11102558 12112118 12555940 12696021 14729408 15059617 16148061
IVD 243500 Developmental-delay psychomotor retardation; variable neurologic 2124776 9673537 10677295 12911192 15486829 16602101
LRPPRC 220111 Developmental-delay psychomotor retardation neurologic 8392290 8392291 11156535 16143014
MCCC1 210200 Developmental-delay psychomotor delay; psychomotor retardation neurologic 10485305 11893004 15868465 16010683
MCCC2 210210 Developmental-delay psychomotor retardation neurologic 1293382 8831079 11181649 16010683
MLYCD 248360 Developmental-delay psychomotor retardation; neurodevelopment delayed neurologic 3709568 6145813 7609455 8259873 9177981 9869665 10417274 11461195 11550227 12955715 16275149
MMAA 251100 Developmental-delay psychomotor retardation neurologic 6132336
MMAB 251110 Developmental-delay psychomotor retardation neurologic 6132336
MPV17 256810 Developmental-delay development delayed; motor development delayed neurologic 10518083
MTRR 236270 Developmental-delay psychomotor retardation; severe; subnormal mental development neurologic 2860337 6700644 9501215 10484769 12555939 15714522
MUT 251000 Developmental-delay psychomotor delay neurologic 9554742 11350191 16281286 16435223
NAGS 237310 Developmental-delay psychomotor retardation; psychomotor delay neurologic 12447942 12594532
NDUFA12L 252010 Developmental-delay neurologic 16200211
NDUFS1 252010 Developmental-delay regression; psychomotor retardation; psychomotor regression neurologic 11349233 15576045
NDUFS2 252010 Developmental-delay marked motor delay; psychomotor regression neurologic 11220739 15981016
NDUFS4 252010 Developmental-delay detorioration; psychomotor retardation neurologic 9463323 10944442 11181577
NDUFS6 252010 Developmental-delay psychomotor retardation neurologic 15372108
NDUFS7 252010 Developmental-delay psychomotor retardation; atactic movements; progressive neurologic 1770777 10360771
NDUFS8 252010 Developmental-delay regression; psychomotor retardation neurologic 9837812
NDUFV1 252010 Developmental-delay psychomotor regression; psychomotor retardation; developmental stagnation neurologic 10080174 11349233 15981016
NDUFV2 252010 Developmental-delay regression; psychomotor retardation neurologic 12754703
OAT 258870 Developmental-delay psychomotor development delayed neurologic 15159649
OGDH 203740 Developmental-delay detorioration; psychomotor retardation neurologic 7075624
OTC 311250 Developmental-delay psychomotor retardation; delayed milestones neurologic 3508674 3945292 10064660 12647200 15174800 15578616
OXCT1 245050 Developmental-delay psychomotor retardation neurologic 11757586
PANK2 234200 Developmental-delay regression; coordination; motor delay; psychomotor retardation neurologic 7503394 12510040 15812126 15911822 16437574
PC 266150 Developmental-delay psychomotor retardation; psychomotor delay; dysgraphia neurologic 6422150 7720232 9585002 16325442
PCCA 606054 Developmental-delay psychomotor delay; developmental retardation neurologic 9683601 10101253 10780784 15464417 15614906
PCCB 606054 Developmental-delay psychomotor delay; developmental retardation neurologic 9683601 10488817 10780784 12409268 15464417 15614906
PDHA1 308930 Developmental-delay psychomotor retardation neurologic 8498846 8982956 9266390
PDHA1 312170 Developmental-delay psychomotor retardation; fine motor delay; learning delay neurologic 1338114 3137520 8504306 9187674 9686362 10486093 12163191 15384102 15473177 15558317 16256390 16412675 16552546
PDHB 179060 Developmental-delay neurologic 15138885
PDHX 245349 Developmental-delay difficulty running; psychomotor retardation; coordination; generalized; neurologic deterioration neurologic 8584393 9399911 9467010 9501264 11935326 14518830 15303005 16566017
PEO1 271245 Developmental-delay speech development arrest neurologic 8133312
PEO1 609286 Developmental-delay psychomotor retardation; episodes neurologic 1634620
PINK1 605909 Developmental-delay cognitive delay neurologic 16547921
POLG 203700 Developmental-delay psychomotor retardation; psychomotor regression neurologic 15689359 15929042 16177225 16545482
POLG 258450 Developmental-delay psychomotor development delayed; speech delay neurologic 16638794
PRODH 239500 Developmental-delay neurologic 12525555
PUS1 600462 Developmental-delay motor development; delayed neurologic 15971356
RMRP 250250 Developmental-delay dystrophic neurologic 14569125
RMRP 607095 Developmental-delay psychomotor retardation neurologic 11370632
SCO2 604377 Developmental-delay psychomotor retardation neurologic 10545952 10749987 11673586
SDHA 252011 Developmental-delay regression; psychomotor retardation neurologic 10746566 12794685 16361598
SLC25A13 605814 Developmental-delay mild delay neurologic 12111366 15542392
SLC25A15 238970 Developmental-delay psychomotor retardation; coordination neurologic 11355015 11814739 16376511
SLC25A19 607196 Developmental-delay no motor development neurologic 12185364 12376931
SLC25A20 212138 Developmental-delay motor development delayed neurologic 10876004 15057979
SLC25A22 609304 Developmental-delay psychomotor retardation neurologic 15592994
SPAST 182601 Developmental-delay motor milestones delayed neurologic 15326248
STAR 201710 Developmental-delay psychomental retardation neurologic 10323391 16118340
SUCLA2 609560 Developmental-delay psychomotor retardation neurologic 15877282
SUOX 272300 Developmental-delay severe; psychomotor retardation neurologic 9050047 9600976 11825068 15952210 16140720
SURF1 220110 Developmental-delay psychomotor regression neurologic 9837813 10647889 10746561 11409433 11955926 15214016 16222681 16225813
TAT 276600 Developmental-delay psychomotor delay neurologic 12548382 16574453
TAZ 300183 Developmental-delay delay in psychomotor development neurologic 9332651
TAZ 302060 Developmental-delay cognitive difficulties neurologic 10484795 14654353 15098233
TK2 609560 Developmental-delay motor development abnormal; motor delay; motor arrest; motor regression; psychomotor delay neurologic 12269728 15639197 15907288 16504786

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